Article
Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells.
Genes & development - 1 Nov 1995
Zhou X Y, Morreau H, Rottier R, Davis D, Bonten E, Gillemans N, Wenger D, Grosveld F G, Doherty P, Suzuki K, Grosveld G C, d'Azzo A
Abstract excerpt
The lysosomal storage disorder galactosialidosis results from a primary deficiency of the protective protein/cathepsin A (PPCA), which in turn affects the activities of beta-galactosidase and neuraminidase. Mice homozygous for a null mutation at the PPCA locus present with signs of the disease shortly after birth and develop a phenotype closely resembling human patients with galactosialidosis. Most of their...
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